Cytogenetic analysis in the diagnosis and management of lipoblastomas: results from a single institution

BackgroundLipoblastomas are rare, benign, soft tissue tumors that occur primarily in young children. Treatment includes complete excision and surveillance for recurrence. Lipoblastomas can be indistinguishable from other benign lipomatous tumors and liposarcomas. Cytogenetic analysis can provide the definitive diagnosis in questionable cases, because benign and malignant lipomatous tumors exhibit specific nonrandom cytogenetic abnormalities. The purpose of the present study was to discuss the disease management and outcomes in a large contemporary group of patients with lipoblastoma.Materials and methodsA retrospective chart review of patients diagnosed with lipoblastoma presenting from 2000–2011 was conducted. The data from these patients were compared with data from a previously published historical group of patients (1985–1999) from the same children's hospital.ResultsWe identified 37 patients in the contemporary cohort group and compared them with 25 patients from the historical group. The tumor involvement sites were similar. The current cohort group had a lower recurrence rate, although this might have been underestimated owing to a shorter follow-up period (median 1.4 y, range 2 wk to 11.0 y). Preoperative imaging findings led to an incorrect diagnosis in 62% of the patients. Cytogenetic analysis was used to help determine the final diagnosis in 50% of the cases. In 39% of cases, translocations involved the long arm of chromosome 8, the most common anomaly in lipoblastoma.ConclusionsLipoblastomas are rare tumors in young children that can be misclassified as other malignant or benign lipomatous tumors with markedly different outcomes and treatments. We recommend that cytogenetic analysis be routinely used for all pediatric lipomatous tumors to provide an accurate diagnosis and guide appropriate therapy and follow-up.